BRS Embryo Multifactorial Inherited Diseases - Numerical Chromosomal Anomalies

Turner syndrome is a monosomic condition found only in females characterized by a (45,X)
karyotype.

Xeroderma pigmentosum is an autosomal recessive genetic disorder in which affected individuals are hypersensitive to sunlight.

A multifactorial disease involves many genes that have a small, equal, and additive effect
as well as an environmental component.

Klinefelter syndrome is a trisomic condition found only in males characterized by a
(47,XXY) karyotype.

The cri du chat syndrome is also called cat's cry syndrome because affected children demonstrate a catlike cry.

DiGeorge syndrome is characterized by immunodeficiency due to the absence of the thymus gland and by hypocalcemia due to the absence of the parathyroid glands.

Duchenne muscular dystrophy demonstrates an X-linked recessive inheritance pattern

Huntington disease demonstrates an autosomal dominant inheritance pattern.

Aneuploidy occurs as result of nondisjunction during meiosis

B. Cystic fibrosis is an autosomal recessive disease that involves a mutation in the CF gene that
encodes for a Cl- channel.

The reciprocal translocation t(9;22)(q34;q11) is referred to as the Philadelphia chromosome
and results in a fusion gene called the abl/bcr oncogene.

Patau syndrome is a trisomic condition characterized by the presence of an additional chromosome
13.

Triploidy is a condition in which cells contain 69 chromosomes.

Leber hereditary optic neuropathy involves a mutation in the ND4 gene located on mitochondrial
DNA. All mitochondrial DNA is inherited only from the mother because sperm (male)
mitochondria do not pass into the ovum at fertilization.

Leber hereditary optic neuropathy demonstrates a mitochondrial inheritance pattern.

Prader-Willi syndrome involves a microdeletion in chromosome 15q11-13 derived from the
father.

Isochromosome Xq is found in 20% of females with Turner syndrome.

Type I diabetes involve HLA Class II genes. The specific locus is called HLA-DR3 and HLADR4.

This robertsonian translocation is the most common translocation in humans. Carriers of
this translocation are clinically normal.